Cargando…

Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey

OBJECTIVES: Severe combined immunodeficiency disease (SCID), non-SCID T-cell lymphopenia, and other primary immunodeficiency diseases with T-cell and B-cell lymphopenia have low the T-cell-receptor-excision circles (TRECs) and κ-deleting-recombination-excision circles (KRECs) levels that can be meas...

Descripción completa

Detalles Bibliográficos
Autores principales: Kutlug, Seyhan, Karadag Alpaslan, Medine, Hancioglu, Gonca, Elif Ozyazici Ozkan, Sariye, Cemile Yesilirmak, Didem, Bulut, Hasan, Aygun, Canan, Ogur, Gonul, Yildiran, Alisan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Med Bull Sisli Etfal Hosp 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907694/
https://www.ncbi.nlm.nih.gov/pubmed/35317378
http://dx.doi.org/10.14744/SEMB.2020.09623
_version_ 1784665707465670656
author Kutlug, Seyhan
Karadag Alpaslan, Medine
Hancioglu, Gonca
Elif Ozyazici Ozkan, Sariye
Cemile Yesilirmak, Didem
Bulut, Hasan
Aygun, Canan
Ogur, Gonul
Yildiran, Alisan
author_facet Kutlug, Seyhan
Karadag Alpaslan, Medine
Hancioglu, Gonca
Elif Ozyazici Ozkan, Sariye
Cemile Yesilirmak, Didem
Bulut, Hasan
Aygun, Canan
Ogur, Gonul
Yildiran, Alisan
author_sort Kutlug, Seyhan
collection PubMed
description OBJECTIVES: Severe combined immunodeficiency disease (SCID), non-SCID T-cell lymphopenia, and other primary immunodeficiency diseases with T-cell and B-cell lymphopenia have low the T-cell-receptor-excision circles (TRECs) and κ-deleting-recombination-excision circles (KRECs) levels that can be measured in dried blood spots (DBS) of the newborn. The incidence of SCID and non-SCID T-cell lymphopenia in Western societies has been reported by TREC screening of newborns as 1: 58,000 and 1: 7300, respectively. Since there is no similar study in our country, we aimed to perform the first pilot study of TREC and KREC screening of newborn for SCID and non-SCID T-cell lymphopenia in Turkey. METHODS: The heel blood samples of newborns born between 1st October 2015 and 31st December 2016 at two major hospitals in our city were included in this study. TREC and KREC copies were determined by a multiplex quantitative PCR-based method from newborn DBS. Cutoff levels were used as 7 copies per DBS for TRECs and KRECs, 1000 copies for ACTB (internal control). Failed samples or abnormal results in measurements were tested the second time. An immunologist evaluated data of newborns with low TREC and KREC copies clinically and through the laboratory. RESULTS: A total of 1960 DBS were tested. The results of 1856 newborns were evaluated. The low TRECs and/or KRECs levels were detected in 71 newborns (3.8 %). The low TRECs rate was 1.1 %. Preterm newborns have lower levels of TRECs and KRECs than term newborns (both p <0.0001). As a result of immunological research, we did not detect any SCID, but we detected 2 newborns with non-SCID T-cell lymphopenia (1:928). These 2 newborns were found to have frequent and severe infectious diseases or hypogammaglobulinemia in their clinical follow-up, although they did not have absolute lymphopenia. CONCLUSION: Non-SCID T-cell lymphopenia is common in our country than in western societies. TRECs and KRECs assay should be considered for routine NBS programs in our country. Studies involving more newborns should be conducted to detect SCID.
format Online
Article
Text
id pubmed-8907694
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Med Bull Sisli Etfal Hosp
record_format MEDLINE/PubMed
spelling pubmed-89076942022-03-21 Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey Kutlug, Seyhan Karadag Alpaslan, Medine Hancioglu, Gonca Elif Ozyazici Ozkan, Sariye Cemile Yesilirmak, Didem Bulut, Hasan Aygun, Canan Ogur, Gonul Yildiran, Alisan Sisli Etfal Hastan Tip Bul Original Research OBJECTIVES: Severe combined immunodeficiency disease (SCID), non-SCID T-cell lymphopenia, and other primary immunodeficiency diseases with T-cell and B-cell lymphopenia have low the T-cell-receptor-excision circles (TRECs) and κ-deleting-recombination-excision circles (KRECs) levels that can be measured in dried blood spots (DBS) of the newborn. The incidence of SCID and non-SCID T-cell lymphopenia in Western societies has been reported by TREC screening of newborns as 1: 58,000 and 1: 7300, respectively. Since there is no similar study in our country, we aimed to perform the first pilot study of TREC and KREC screening of newborn for SCID and non-SCID T-cell lymphopenia in Turkey. METHODS: The heel blood samples of newborns born between 1st October 2015 and 31st December 2016 at two major hospitals in our city were included in this study. TREC and KREC copies were determined by a multiplex quantitative PCR-based method from newborn DBS. Cutoff levels were used as 7 copies per DBS for TRECs and KRECs, 1000 copies for ACTB (internal control). Failed samples or abnormal results in measurements were tested the second time. An immunologist evaluated data of newborns with low TREC and KREC copies clinically and through the laboratory. RESULTS: A total of 1960 DBS were tested. The results of 1856 newborns were evaluated. The low TRECs and/or KRECs levels were detected in 71 newborns (3.8 %). The low TRECs rate was 1.1 %. Preterm newborns have lower levels of TRECs and KRECs than term newborns (both p <0.0001). As a result of immunological research, we did not detect any SCID, but we detected 2 newborns with non-SCID T-cell lymphopenia (1:928). These 2 newborns were found to have frequent and severe infectious diseases or hypogammaglobulinemia in their clinical follow-up, although they did not have absolute lymphopenia. CONCLUSION: Non-SCID T-cell lymphopenia is common in our country than in western societies. TRECs and KRECs assay should be considered for routine NBS programs in our country. Studies involving more newborns should be conducted to detect SCID. Med Bull Sisli Etfal Hosp 2021-01-12 /pmc/articles/PMC8907694/ /pubmed/35317378 http://dx.doi.org/10.14744/SEMB.2020.09623 Text en Copyright © by The Medical Bulletin of Sisli Etfal Hospital https://creativecommons.org/licenses/by/3.0/This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
spellingShingle Original Research
Kutlug, Seyhan
Karadag Alpaslan, Medine
Hancioglu, Gonca
Elif Ozyazici Ozkan, Sariye
Cemile Yesilirmak, Didem
Bulut, Hasan
Aygun, Canan
Ogur, Gonul
Yildiran, Alisan
Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey
title Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey
title_full Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey
title_fullStr Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey
title_full_unstemmed Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey
title_short Multiplex PCR-Based Newborn Screening for Severe T and B-Cell Lymphopenia: The first Pilot Study in Turkey
title_sort multiplex pcr-based newborn screening for severe t and b-cell lymphopenia: the first pilot study in turkey
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907694/
https://www.ncbi.nlm.nih.gov/pubmed/35317378
http://dx.doi.org/10.14744/SEMB.2020.09623
work_keys_str_mv AT kutlugseyhan multiplexpcrbasednewbornscreeningforseveretandbcelllymphopeniathefirstpilotstudyinturkey
AT karadagalpaslanmedine multiplexpcrbasednewbornscreeningforseveretandbcelllymphopeniathefirstpilotstudyinturkey
AT hancioglugonca multiplexpcrbasednewbornscreeningforseveretandbcelllymphopeniathefirstpilotstudyinturkey
AT elifozyaziciozkansariye multiplexpcrbasednewbornscreeningforseveretandbcelllymphopeniathefirstpilotstudyinturkey
AT cemileyesilirmakdidem multiplexpcrbasednewbornscreeningforseveretandbcelllymphopeniathefirstpilotstudyinturkey
AT buluthasan multiplexpcrbasednewbornscreeningforseveretandbcelllymphopeniathefirstpilotstudyinturkey
AT ayguncanan multiplexpcrbasednewbornscreeningforseveretandbcelllymphopeniathefirstpilotstudyinturkey
AT ogurgonul multiplexpcrbasednewbornscreeningforseveretandbcelllymphopeniathefirstpilotstudyinturkey
AT yildiranalisan multiplexpcrbasednewbornscreeningforseveretandbcelllymphopeniathefirstpilotstudyinturkey